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Waardenburg综合征是一种罕见的听觉色素性遗传疾病,主要症状为感音神经性听力损失和皮肤、头发、虹膜、眼底等部位的色素紊乱以及其他发育缺陷,具体分为4种不同亚型,每种亚型对应的致病基因不同,致病基因编码转录因子和信号分子对神经嵴细胞向黑色素细胞的发育过程起着关键作用.由于Waardenburg综合征不同亚型表现出不同的症状、体征及眼部表现.Waardenburg综合征患者常因听力丧失而首诊于耳鼻喉头颈外科,眼科医师若缺乏与此病相关的理论知识将导致误诊或漏诊.尽管目前对该疾病的治疗方法有限,但随着基因疗法和听力管理方法的不断发展,未来治疗前景将会更广阔.

Waardenburg syndrome is a rare genetic disease of auditory pigmentation.The main symptom is sensorineural hearing loss.Pigment disorders and other developmental defects in skin,hair,iris,fundus and other parts are specifically divided into four different subtypes,each of which corresponds to different pathogenic genes,which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes.Because there are multiple subtypes of Waardenburg syndrome,different subtypes exhibit different symptoms,signs and ocular manifestations.Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss.Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis.Although there are currently limited treatments for the disease,with the continuous development of gene therapy and hearing management methods,the future treatment prospects will be broader.